Associated Papers
Clinical and Genetic Heterogeneity of Nuclear Envelopathy Related Muscular Dystrophies in an Indian Cohort.
Baskar D et al.
Journal of Neuromuscular Diseases, 2024
A recurrent homozygous LMNA missense variant p.Thr528Met causes atypical progeroid syndrome characterized by mandibuloacral dysostosis, severe muscular dystrophy, and skeletal deformities.
Saadi A et al.
American Journal of Medical Genetics. Part A, 2023
Nuclear proteostasis imbalance in laminopathy-associated premature aging diseases.
Pande S et al.
Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2023
Protein domains provide a new layer of information for classifying human variations in rare diseases.
Corcuff M et al.
Frontiers in Bioinformatics, 2023
Genotype-Phenotype Correlations in Human Diseases Caused by Mutations of LINC Complex-Associated Genes: A Systematic Review and Meta-Summary.
Storey EC et al.
Cells, 2022
Most myopathic lamin variants aggregate: a functional genomics approach for assessing variants of uncertain significance.
Anderson CL et al.
Npj Genomic Medicine, 2021
Emery-Dreifuss muscular dystrophy.
Heller SA et al.
Muscle & Nerve, 2020
The functional landscape of the human phosphoproteome.
Ochoa D et al.
Nature Biotechnology, 2020
Cardiovascular Involvement in Pediatric Laminopathies. Report of Six Patients and Literature Revision.
Baban A et al.
Frontiers in Pediatrics, 2020
Importance of early diagnosis in LMNA-related muscular dystrophy for cardiac surveillance.
Choi SA et al.
Muscle & Nerve, 2019
Cardiac and Neuromuscular Features of Patients With LMNA-Related Cardiomyopathy.
Peretto G et al.
Annals of Internal Medicine, 2019
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
Laminopathies; Mutations on single gene and various human genetic diseases.
Kang SM et al.
Bmb Reports, 2018
Distinct Fiber Type Signature in Mouse Muscles Expressing a Mutant Lamin A Responsible for Congenital Muscular Dystrophy in a Patient.
Barateau A et al.
Cells, 2017
Immunohistochemistry on a panel of Emery-Dreifuss muscular dystrophy samples reveals nuclear envelope proteins as inconsistent markers for pathology.
Le Thanh P et al.
Neuromuscular Disorders : Nmd, 2017
LMNA Sequences of 60,706 Unrelated Individuals Reveal 132 Novel Missense Variants in A-Type Lamins and Suggest a Link between Variant p.G602S and Type 2 Diabetes.
Florwick A et al.
Frontiers in Genetics, 2017
Clinical applications of next-generation sequencing-based gene panel in patients with muscular dystrophy: Korean experience.
Seong MW et al.
Clinical Genetics, 2016
Muscular dystrophy-associated SUN1 and SUN2 variants disrupt nuclear-cytoskeletal connections and myonuclear organization.
Meinke P et al.
Plos Genetics, 2014
Cellular mechanosensing: getting to the nucleus of it all.
Fedorchak GR et al.
Progress in Biophysics and Molecular Biology, 2014
Mapping disease-related missense mutations in the immunoglobulin-like fold domain of lamin A/C reveals novel genotype-phenotype associations for laminopathies.
Scharner J et al.
Proteins, 2014
Congenital fiber type disproportion myopathy caused by LMNA mutations.
Kajino S et al.
Journal of the Neurological Sciences, 2014
Systematic identification of pathological lamin A interactors.
Dittmer TA et al.
Molecular Biology of the Cell, 2014
A novel mutation of the LMNA gene in a family with dilated cardiomyopathy, conduction system disease, and sudden cardiac death of young females.
Chen W et al.
Molecular and Cellular Biochemistry, 2013
Myopathic lamin mutations impair nuclear stability in cells and tissue and disrupt nucleo-cytoskeletal coupling.
Zwerger M et al.
Human Molecular Genetics, 2013
PGD for inherited cardiac diseases.
Kuliev A et al.
Reproductive Biomedicine Online, 2012
Novel LMNA mutations in patients with Emery-Dreifuss muscular dystrophy and functional characterization of four LMNA mutations.
Scharner J et al.
Human Mutation, 2011
Lamin A variants that cause striated muscle disease are defective in anchoring transmembrane actin-associated nuclear lines for nuclear movement.
Folker ES et al.
Proceedings of the National Academy of Sciences of the United States of America, 2011
Specific phosphorylation of Ser458 of A-type lamins in LMNA-associated myopathy patients.
Mitsuhashi H et al.
Journal of Cell Science, 2010
Phenotypic clustering of lamin A/C mutations in neuromuscular patients.
Benedetti S et al.
Neurology, 2007
Activation of MAPK pathways links LMNA mutations to cardiomyopathy in Emery-Dreifuss muscular dystrophy.
Muchir A et al.
The Journal of Clinical Investigation, 2007
Compound heterozygosity for mutations in LMNA causes a progeria syndrome without prelamin A accumulation.
Verstraeten VL et al.
Human Molecular Genetics, 2006
Laminopathies: multisystem dystrophy syndromes.
Jacob KN et al.
Molecular Genetics and Metabolism, 2006
Gene symbol: CMD1A. Disease: Dilated cardiomyopathy associated with conduction system disease.
Arbustini EA et al.
Human Genetics, 2005
Gene symbol: LMNA. Disease: Cardiomyopathy, dilated, with conduction defect 1.
Arbustini Eloisa AE et al.
Human Genetics, 2005
Cardiac features of Emery-Dreifuss muscular dystrophy caused by lamin A/C gene mutations.
Sanna T et al.
European Heart Journal, 2003
Natural history of dilated cardiomyopathy due to lamin A/C gene mutations.
Taylor MR et al.
Journal of the American College of Cardiology, 2003
[Hauptmann-Thannhauser muscular dystrophy and differential diagnosis of myopathies associated with contractures].
Hanisch F et al.
Der Nervenarzt, 2002
Life at the edge: the nuclear envelope and human disease.
Burke B et al.
Nature Reviews. Molecular Cell Biology, 2002
The Ig-like structure of the C-terminal domain of lamin A/C, mutated in muscular dystrophies, cardiomyopathy, and partial lipodystrophy.
Krimm I et al.
Structure (london, England : 1993), 2002
Structure of the globular tail of nuclear lamin.
Dhe-Paganon S et al.
The Journal of Biological Chemistry, 2002
Autosomal dominant dilated cardiomyopathy with atrioventricular block: a lamin A/C defect-related disease.
Arbustini E et al.
Journal of the American College of Cardiology, 2002
Emery-Dreifuss muscular dystrophy.
Helbling-Leclerc A et al.
European Journal of Human Genetics : Ejhg, 2002
Properties of lamin A mutants found in Emery-Dreifuss muscular dystrophy, cardiomyopathy and Dunnigan-type partial lipodystrophy.
Ostlund C et al.
Journal of Cell Science, 2001
Novel and recurrent mutations in lamin A/C in patients with Emery-Dreifuss muscular dystrophy.
Brown CA et al.
American Journal of Medical Genetics, 2001
Both emerin and lamin C depend on lamin A for localization at the nuclear envelope.
Vaughan A et al.
Journal of Cell Science, 2001
Mutations in the LMNA gene encoding lamin A/C.
Genschel J et al.
Human Mutation, 2000
Insulin resistance in human partial lipodystrophy.
Hegele RA
Current Atherosclerosis Reports, 2000
Clinical and molecular genetic spectrum of autosomal dominant Emery-Dreifuss muscular dystrophy due to mutations of the lamin A/C gene.
Bonne G et al.
Annals of Neurology, 2000